Lichen myxedematosus

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Overview

Lichen myxedematosus, also known as papular mucinosis, is a rare skin condition in which a substance called mucin builds up in the skin. This causes small, firm, waxy bumps (papules) to appear, most often on the hands, arms, face, neck, and trunk. The skin may also become thickened and hardened in affected areas. There are two main forms of this disease: a generalized form called scleromyxedema, which is more serious and can affect internal organs, and a localized form that mainly affects the skin. Scleromyxedema is often linked to an abnormal protein in the blood called a paraprotein (usually an IgG lambda type), which is produced by certain immune cells. The localized forms tend to be milder and may not have this blood abnormality. Symptoms vary depending on the form. In the localized type, patients may notice clusters of small bumps in specific areas of the body. In scleromyxedema, the skin changes are more widespread, and patients can experience stiffness, difficulty moving their joints, and problems with swallowing or breathing if internal organs are involved. Neurological symptoms such as confusion, seizures, or coma can occur in severe cases. The exact cause of lichen myxedematosus is not fully understood, but it is not considered a hereditary (inherited) condition. Treatment depends on the severity. Localized forms may not need aggressive treatment, while scleromyxedema often requires systemic therapies such as intravenous immunoglobulin (IVIG), which is currently considered a first-line treatment. Other options include melphalan, thalidomide, and autologous stem cell transplant in refractory cases.

Key symptoms:

Small, firm, waxy skin bumps (papules)Thickened or hardened skinSkin stiffnessDifficulty moving joints due to tight skinSwelling of the face or handsDifficulty swallowingMuscle weaknessNumbness or tingling in hands and feetShortness of breathConfusion or changes in mental statusSeizuresWeight lossFatigueSkin that looks shiny or waxy

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Lichen myxedematosus.

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No actively recruiting trials found for Lichen myxedematosus at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Lichen myxedematosus community →

No specialists are currently listed for Lichen myxedematosus.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Lichen myxedematosus.

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Community

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Latest news about Lichen myxedematosus

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which form of lichen myxedematosus do I have — localized or scleromyxedema?,Do my blood tests show a paraprotein, and what does that mean for my health?,What treatment do you recommend, and how long will I need it?,What are the signs of serious complications I should watch for at home?,How often will I need follow-up visits and blood tests?,Are there any clinical trials or newer treatments available for this condition?,Should I see any other specialists, such as a hematologist or neurologist?

Common questions about Lichen myxedematosus

What is Lichen myxedematosus?

Lichen myxedematosus, also known as papular mucinosis, is a rare skin condition in which a substance called mucin builds up in the skin. This causes small, firm, waxy bumps (papules) to appear, most often on the hands, arms, face, neck, and trunk. The skin may also become thickened and hardened in affected areas. There are two main forms of this disease: a generalized form called scleromyxedema, which is more serious and can affect internal organs, and a localized form that mainly affects the skin. Scleromyxedema is often linked to an abnormal protein in the blood called a paraprotein (usually

How is Lichen myxedematosus inherited?

Lichen myxedematosus follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Lichen myxedematosus typically begin?

Typical onset of Lichen myxedematosus is adult. Age of onset can vary across affected individuals.